Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y168fs
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PAH

NM_000277.3:p.Y168fs

Associated Papers

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Vieira Neto E et al.

Molecular Genetics & Genomic Medicine, 2018

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Ho G et al.

Jimd Reports, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."